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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-49638369-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=49638369&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ZNF423",
"hgnc_id": 16762,
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Asp269Asp",
"inheritance_mode": "Unknown,AD,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001379286.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 261,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Nephronophthisis 14,ZNF423-related disorder,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "D",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7968,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 3879,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001379286.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Asp269Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000563137.7",
"protein_coding": true,
"protein_id": "NP_001366215.1",
"strand": false,
"transcript": "NM_001379286.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "D",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7968,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 3879,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000563137.7",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Asp269Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001379286.1",
"protein_coding": true,
"protein_id": "ENSP00000455588.3",
"strand": false,
"transcript": "ENST00000563137.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 946,
"cds_end": null,
"cds_length": 3675,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000562520.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asp201Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457664.1",
"strand": false,
"transcript": "ENST00000562520.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "D",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4017,
"cdna_start": 621,
"cds_end": null,
"cds_length": 3504,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000567169.5",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.Asp144Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455061.1",
"strand": false,
"transcript": "ENST00000567169.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1284,
"aa_ref": "D",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7659,
"cdna_start": 836,
"cds_end": null,
"cds_length": 3855,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015069.5",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Asp261Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055884.2",
"strand": false,
"transcript": "NM_015069.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1284,
"aa_ref": "D",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7907,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 3855,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000561648.5",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Asp261Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455426.1",
"strand": false,
"transcript": "ENST00000561648.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7762,
"cdna_start": 946,
"cds_end": null,
"cds_length": 3675,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001271620.2",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asp201Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258549.1",
"strand": false,
"transcript": "NM_001271620.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 772,
"cds_end": null,
"cds_length": 3675,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000562871.5",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asp201Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457928.1",
"strand": false,
"transcript": "ENST00000562871.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "D",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7563,
"cdna_start": 740,
"cds_end": null,
"cds_length": 3504,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001330533.2",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.Asp144Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317462.1",
"strand": false,
"transcript": "NM_001330533.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "D",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4201,
"cdna_start": 641,
"cds_end": null,
"cds_length": 3504,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000535559.5",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.Asp144Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442321.1",
"strand": false,
"transcript": "ENST00000535559.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1373,
"aa_ref": "D",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8834,
"cdna_start": 2011,
"cds_end": null,
"cds_length": 4122,
"cds_start": 1050,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047433803.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.1050C>T",
"hgvs_p": "p.Asp350Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289759.1",
"strand": false,
"transcript": "XM_047433803.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8037,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 3948,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047433804.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Asp292Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289760.1",
"strand": false,
"transcript": "XM_047433804.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "D",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8432,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 3927,
"cds_start": 855,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047433805.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Asp285Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289761.1",
"strand": false,
"transcript": "XM_047433805.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "D",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8101,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 3900,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006721171.5",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Asp276Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721234.1",
"strand": false,
"transcript": "XM_006721171.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "D",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8311,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 3900,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047433806.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Asp276Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289762.1",
"strand": false,
"transcript": "XM_047433806.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "D",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8040,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 3900,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047433807.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Asp276Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289763.1",
"strand": false,
"transcript": "XM_047433807.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "D",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8222,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 3888,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047433808.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Asp272Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289764.1",
"strand": false,
"transcript": "XM_047433808.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8382,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 3675,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005255856.5",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asp201Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255913.1",
"strand": false,
"transcript": "XM_005255856.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7708,
"cdna_start": 885,
"cds_end": null,
"cds_length": 3675,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017023078.2",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asp201Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878567.1",
"strand": false,
"transcript": "XM_017023078.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7611,
"cdna_start": 788,
"cds_end": null,
"cds_length": 3675,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047433809.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Asp201Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289765.1",
"strand": false,
"transcript": "XM_047433809.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "D",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7387,
"cdna_start": 564,
"cds_end": null,
"cds_length": 3504,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047433810.1",
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.Asp144Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289766.1",
"strand": false,
"transcript": "XM_047433810.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
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"dbscsnv_ada_score": null,
"dbsnp": "rs145503941",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00016170704,
"gene_hgnc_id": 16762,
"gene_symbol": "ZNF423",
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"gnomad_mito_heteroplasmic": null,
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"hom_count_reference_population": 0,
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"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Nephronophthisis 14|ZNF423-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.409,
"pos": 49638369,
"ref": "G",
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"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001379286.1"
}
]
}